Pulmonary Arterial Hypertension KnowledgeBase (bioinfom_tsdb)
bioinfom_tsdb
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

27303

Name

RBMS3

Synonymous

RNA binding motif, single stranded interacting protein 3;RBMS3;RNA binding motif, single stranded interacting protein 3

Definition

RNA-binding motif, single-stranded-interacting protein 3|RNA-binding protein

Position

3p24-p23

Gene Type

protein-coding

Mutation summary:

Mutations in domains
Mutational pattern in 17 major cancer types
LoF vs missense mutations
All the copy number variations from COSMIC database V72
All the mutations from COSMIC database V72

Mutation summary in protein domains

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We used uniprot protein structure data from ensemble BioMart database. The size of circle shows the relative mutation number.

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

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The non-synonymous mutational pattern in 17 major cancer types.
The synonymous mutational pattern in 17 major cancer types.

Loss of Function mutations compare to missense mutations

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Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.00.

The copy number variations for various cancers

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The copy number variations in 17 major cancer groups: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; NS, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

COSMIC somatic mutation [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.1000G>A; p.G334S; 3:29936146-29936146

 skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.807G>A; p.P269P; 3:29897394-29897394

 breastcarcinoma; HER-positive_carcinomaSubstitution - coding silent

c.704A>C; p.K235T; 3:29868924-29868924

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1031C>T; p.S344L; 3:29936177-29936177

 skin; scalpcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.451A>G; p.M151V; 3:29739771-29739771

 upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.499A>G; p.I167V; 3:29739819-29739819

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1179+10C>T; p.?; 3:29988233-29988233

 stomachcarcinoma; adenocarcinomaUnknown

c.342C>T; p.A114A; 3:29587148-29587148

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.689G>A; p.R230Q; 3:29868909-29868909

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.162C>T; p.S54S; 3:29434829-29434829

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.745-2A>G; p.?; 3:29884160-29884160

 skin; facecarcinoma; squamous_cell_carcinomaUnknown

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